{"id":"W4200280849","doi":"10.1161/circgen.121.003589","title":"Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome","year":2021,"lang":"en","type":"article","venue":"Circulation Genomic and Precision Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Libin Cardiovascular Institute of Alberta","funders":"Canadian Institutes of Health Research; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"Provocation test; Flecainide; Sudden death; Sudden infant death syndrome; Channelopathy; Phenotype; Mutation; Calcium; Long QT syndrome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001978657,0.0006535717,0.0002609743,0.0004231766,0.0001917996,0.0001561489,0.0001961267,0.0004795232,0.0009845336],"category_scores_gemma":[0.0009445705,0.00009300871,0.0001817457,0.0001119579,0.0003062492,0.0001357391,0.0001947131,0.0003045889,0.00009227662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001467066,"about_ca_system_score_gemma":0.0001203893,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004142934,"about_ca_topic_score_gemma":0.0006030725,"domain_scores_codex":[0.9998127,0.00003960205,0.00002294318,0.00005829708,0.00004359094,0.00002295988],"domain_scores_gemma":[0.9996438,0.0001449086,0.00006148531,0.000016225,0.00003098861,0.0001026004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00168782,0.0004888921,0.4945638,0.000145424,0.0001379115,0.2065889,0.00119178,0.0006641055,0.2730614,0.000215755,0.0004085702,0.02084557],"study_design_scores_gemma":[0.0001532918,0.004172829,0.5910787,0.0000303473,0.0001309024,0.3740705,0.0003043249,0.001648187,0.02723704,0.0001505234,0.0009950708,0.00002833971],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993461,0.00008615467,0.0002973608,0.00003046403,0.00000382256,0.000007901357,0.00003201143,0.000009357767,0.0001868066],"genre_scores_gemma":[0.9995529,0.00003595934,0.0002344792,0.00002653266,0.000007927511,0.000004421987,0.00005145722,0.000002613538,0.00008360883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009845336,"threshold_uncertainty_score":0.003293574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03934275082803448,"score_gpt":0.2837051413861519,"score_spread":0.2443623905581175,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}